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Aliases for PHC2 Gene

Aliases for PHC2 Gene

  • Polyhomeotic Homolog 2 2 3
  • Early Development Regulator 2 (Homolog Of Polyhomeotic 2) 2 3
  • Early Development Regulatory Protein 2 3 4
  • Polyhomeotic Homolog 2 (Drosophila) 2 5
  • HPH2 3 4
  • EDR2 3 4
  • PH2 3 4
  • Polyhomeotic-Like 2 (Drosophila) 2
  • Polyhomeotic-Like 2 3
  • Polyhomeotic 2 3

External Ids for PHC2 Gene

Previous HGNC Symbols for PHC2 Gene

  • EDR2

Previous GeneCards Identifiers for PHC2 Gene

  • GC01M032845
  • GC01M033215
  • GC01M033291
  • GC01M033458
  • GC01M033561
  • GC01M033789
  • GC01M031905
  • GC01M033325
  • GC01M033326

Summaries for PHC2 Gene

Entrez Gene Summary for PHC2 Gene

  • In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PHC2 Gene

PHC2 (Polyhomeotic Homolog 2) is a Protein Coding gene. Diseases associated with PHC2 include anus cancer. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation. GO annotations related to this gene include sequence-specific DNA binding and identical protein binding. An important paralog of this gene is SAMD7.

UniProtKB/Swiss-Prot for PHC2 Gene

  • Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A Lys-119, rendering chromatin heritably changed in its expressibility.

Gene Wiki entry for PHC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHC2 Gene

Genomics for PHC2 Gene

Regulatory Elements for PHC2 Gene

Promoters for PHC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHC2 Gene

Chromosome:
1
Start:
33,323,623 bp from pter
End:
33,431,052 bp from pter
Size:
107,430 bases
Orientation:
Minus strand

Genomic View for PHC2 Gene

Genes around PHC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHC2 Gene

Proteins for PHC2 Gene

  • Protein details for PHC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXK0-PHC2_HUMAN
    Recommended name:
    Polyhomeotic-like protein 2
    Protein Accession:
    Q8IXK0
    Secondary Accessions:
    • A1L4Q1
    • A8KA40
    • D3DPR2
    • Q2TAL3
    • Q5T0C1
    • Q6NUJ6
    • Q6ZQR1
    • Q8N306
    • Q8TAG8
    • Q96BL4
    • Q9Y4Y7

    Protein attributes for PHC2 Gene

    Size:
    858 amino acids
    Molecular mass:
    90713 Da
    Quaternary structure:
    • Component of a PRC1-like complex. Interacts with CBX4. Interacts with BMI1, PCGF2, PHC1 and RNF2. Interacts with CHTOP (By similarity). Interacts with the N-terminal region of the SP1 transcription factor and with MAPKAPK2.
    Miscellaneous:
    • The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
    SequenceCaution:
    • Sequence=AAH68573.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH92492.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI13956.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PHC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHC2 Gene

Proteomics data for PHC2 Gene at MOPED

Post-translational modifications for PHC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHC2 Gene

No data available for DME Specific Peptides for PHC2 Gene

Domains & Families for PHC2 Gene

Gene Families for PHC2 Gene

Protein Domains for PHC2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IXK0

UniProtKB/Swiss-Prot:

PHC2_HUMAN :
  • HD1 motif interacts with SAM domain of PHC1.
  • Contains 1 FCS-type zinc finger.
Domain:
  • HD1 motif interacts with SAM domain of PHC1.
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 1 FCS-type zinc finger.
genes like me logo Genes that share domains with PHC2: view

Function for PHC2 Gene

Molecular function for PHC2 Gene

UniProtKB/Swiss-Prot Function:
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A Lys-119, rendering chromatin heritably changed in its expressibility.

Gene Ontology (GO) - Molecular Function for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 10976766
GO:0042802 identical protein binding IPI 16169070
genes like me logo Genes that share ontologies with PHC2: view
genes like me logo Genes that share phenotypes with PHC2: view

Animal Models for PHC2 Gene

MGI Knock Outs for PHC2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHC2 Gene

Localization for PHC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHC2 Gene COMPARTMENTS Subcellular localization image for PHC2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21282530
GO:0035102 PRC1 complex IDA 12167701
genes like me logo Genes that share ontologies with PHC2: view

Pathways & Interactions for PHC2 Gene

genes like me logo Genes that share pathways with PHC2: view

Gene Ontology (GO) - Biological Process for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016925 protein sumoylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PHC2: view

No data available for SIGNOR curated interactions for PHC2 Gene

Drugs & Compounds for PHC2 Gene

No Compound Related Data Available

Transcripts for PHC2 Gene

Unigene Clusters for PHC2 Gene

Polyhomeotic homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12: -
SP13:
SP14:
SP15: - -

ExUns: 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PHC2 Gene

GeneLoc Exon Structure for
PHC2
ECgene alternative splicing isoforms for
PHC2

Expression for PHC2 Gene

mRNA expression in normal human tissues for PHC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHC2 Gene

This gene is overexpressed in Whole Blood (x9.3).

Protein differential expression in normal tissues from HIPED for PHC2 Gene

This gene is overexpressed in Retina (19.7), Fetal heart (7.9), Peripheral blood mononuclear cells (6.7), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHC2 Gene



SOURCE GeneReport for Unigene cluster for PHC2 Gene Hs.524271

genes like me logo Genes that share expression patterns with PHC2: view

Protein tissue co-expression partners for PHC2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PHC2 Gene

Orthologs for PHC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHC2 36
  • 100 (a)
OneToOne
PHC2 35
  • 99.69 (n)
  • 99.77 (a)
cow
(Bos Taurus)
Mammalia PHC2 36
  • 92 (a)
OneToOne
PHC2 35
  • 90.91 (n)
  • 91.92 (a)
dog
(Canis familiaris)
Mammalia PHC2 35
  • 91.01 (n)
  • 90.74 (a)
PHC2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phc2 16
Phc2 35
  • 86.75 (n)
  • 87.1 (a)
Phc2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHC2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHC2 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phc2 35
  • 87.48 (n)
  • 88.39 (a)
chicken
(Gallus gallus)
Aves PHC2 35
  • 76.94 (n)
  • 79.11 (a)
PHC2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHC2 36
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii phc2a 36
  • 49 (a)
OneToMany
phc2b 36
  • 47 (a)
OneToMany
edr2 35
phc2a 35
  • 58.79 (n)
  • 54.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta ph-d 36
  • 13 (a)
ManyToMany
ph-p 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for PHC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHC2 Gene

ENSEMBL:
Gene Tree for PHC2 (if available)
TreeFam:
Gene Tree for PHC2 (if available)

Paralogs for PHC2 Gene

Paralogs for PHC2 Gene

(4) SIMAP similar genes for PHC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PHC2: view

Variants for PHC2 Gene

Sequence variations from dbSNP and Humsavar for PHC2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10914692 - 33,367,332(+) CGTGG(A/C/G)TTTCA nc-transcript-variant, reference, missense
VAR_051277 -
rs5861 -- 33,323,919(+) CTTAG(A/C)AGTTC utr-variant-3-prime
rs7264 -- 33,323,781(+) GCCCT(C/T)GCCCT utr-variant-3-prime
rs1130798 -- 33,324,932(-) GAGCG(C/T)CATGA downstream-variant-500B, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PHC2 Gene

Variant ID Type Subtype PubMed ID
nsv522364 CNV Loss 19592680
nsv871813 CNV Loss 21882294
nsv516693 CNV Loss 19592680
nsv834613 CNV Gain 17160897
esv2658876 CNV Deletion 23128226
esv1384773 CNV Insertion 17803354

Variation tolerance for PHC2 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.59; 86.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHC2 Gene

HapMap Linkage Disequilibrium report
PHC2
Human Gene Mutation Database (HGMD)
PHC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHC2 Gene

Disorders for PHC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anus cancer
  • anal cancer
- elite association - COSMIC cancer census association via MalaCards
Search PHC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHC2

Genetic Association Database (GAD)
PHC2
Human Genome Epidemiology (HuGE) Navigator
PHC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHC2
genes like me logo Genes that share disorders with PHC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHC2 Gene

Publications for PHC2 Gene

  1. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PMID: 9121482) Gunster M.J. … Otte A.P. (Mol. Cell. Biol. 1997) 2 3 4 23 67
  2. Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family. (PMID: 12384788) Tonkin E. … Strachan T. (Hum. Genet. 2002) 2 3 23
  3. Role of Bmi1 in H2A ubiquitylation and Hox gene silencing. (PMID: 16751658) Wei J. … Wang H. (J. Biol. Chem. 2006) 3 23
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PHC2 Gene

Sources for PHC2 Gene

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